Croatian medical journal · 2006
High prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Hocevar Marko, Avbelj Magdalena, Perić Barbara, Zgajnar Janez, Besić Nikola, Battelino Tadej
Аннотация
AIM: To prospectively determine the prevalence of germline CDKN2A mutations in the Slovenian cutaneous malignant melanoma (CMM) families.
METHODS: From January 2001 till the end of 2003 we prospectively screened 19 individuals from 11 CMM families, as well as 3 children with CMM aged from 6 to 13 years, with a negative family history.
RESULTS: Five distinct mutations were detected in 5 out of 11 screened families (10/19 individuals) and a previously recognized polymorphism was detected in a single family. Detected mutations were functionally deleterious (T281A, G68A, G301T, G71C and IVS - 1g>a). No mutations could be detected in 3 children.
CONCLUSIONS: The prevalence of CDKN2A mutations among Slovenian CMM families was high, indicating the need for genetic counseling.
METHODS: From January 2001 till the end of 2003 we prospectively screened 19 individuals from 11 CMM families, as well as 3 children with CMM aged from 6 to 13 years, with a negative family history.
RESULTS: Five distinct mutations were detected in 5 out of 11 screened families (10/19 individuals) and a previously recognized polymorphism was detected in a single family. Detected mutations were functionally deleterious (T281A, G68A, G301T, G71C and IVS - 1g>a). No mutations could be detected in 3 children.
CONCLUSIONS: The prevalence of CDKN2A mutations among Slovenian CMM families was high, indicating the need for genetic counseling.